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Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease

机译：LRRK2 G2019S和特发性帕金森病的性别差异

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Abstract <section xml:id="acn3489-sec-0001"> <title type="main">Objective > To evaluate sex differences and the relative effect of G2019S <fc>LRRK</fc> 2 mutations in Parkinson's disease ( <fc>PD</fc> ). </section> <section xml:id="acn3489-sec-0002"> <title type="main">Methods > 530 <fc>LRRK</fc> 2 <fc>PD</fc> carriers and 759 noncarrier <fc>PD</fc> (idiopathic, <fc>IPD</fc> ) evaluated as part of the Fox Foundation ( <fc>MJFF</fc> ) Consortium were included. All participants completed a study visit including information on clinical features, treatment, examination, and motor and nonmotor questionnaires. Clinical features were compared between men and women separately for <fc>IPD</fc> and <fc>LRRK</fc> 2 <fc>PD</fc> ; and features were compared between <fc>IPD</fc> and <fc>LRRK</fc> 2 <fc>PD</fc> separately for men and women. </section> <section xml:id="acn3489-sec-0003"> <title type="main">Results > Among <fc>IPD</fc> : men had higher levodopa equivalency dose ( <fc>LED</fc> ), worse activities of daily living and motoric severity but lower complications of therapy ( <fc>UPDRS</fc> ‐ <fc>IV</fc> ). <fc>IPD</fc> women had higher olfaction and thermoregulatory scores and were more likely to report family history of <fc>PD</fc> . Among <fc>LRRK</fc> 2 <fc>PD</fc> : Male predominance was not observed among G2019S <fc>LRRK</fc> 2 cases. Women had worse <fc>UPDRS</fc> ‐ <fc>IV</fc> but better olfaction. Among same sex : <fc>LRRK</fc> 2 men and women had better olfaction than <fc>IPD</fc> counterparts. <fc>LRRK</fc> 2 men demonstrated lower motor and higher cognitive, <fc>RBD</fc> and thermoregulation scores than <fc>IPD</fc> men and <fc>LRRK</fc> 2 women had greater <fc>UDPRS</fc> ‐ <fc>IV</fc> and rates of dyskinesia. </section> <section xml:id="acn3489-sec-0004"> <title type="main">Interpretation > There were clinical differences between sexes with a more severe phenotype in <fc>IPD</fc> men and more complications of therapy in women. The more severe male phenotype was moderated by <fc>LRRK</fc> 2 , with <fc>LRRK</fc> 2 men and women showing less diversity of phenotype. Our study supports that both genetics and sex drive phenotype, and thus trials in </span> <span class="z_kbtn z_kbtnclass hoverxs" style="display: none;">展开▼</span> </div> <div class="translation abstracttxt"> <span class="zhankaihshouqi fivelineshidden" id="abstract"> <span>机译：</span><abstract xmlns =“http://www.wiley.com/namespaces/wiley”type =“main”xml：id =“acn3489-abs-0001”xml：lang =“en”> <标题类型=“main”>抽象</ title> <第XML：ID =“ACN3489-SEC-0001”> <标题类型=“main”>目标</ title> > 评估性别差异和G2019S的相对效果 <FC> LRRK </ FC> 2 </ i> 帕金森病的突变（ <FC> PD </ FC> ）。 </ p> </部分> <第XML：ID =“ACN3489-SEC-0002”> <标题类型=“main”>方法</ title> > 530. <FC> LRRK </ FC> 2 </ i> <FC> PD </ FC> 运营商和759个非争吵 <FC> PD </ FC> （特发性， <FC> IPD </ FC> ）作为Fox基金会的一部分进行评估（ <FC> MJFF </ FC> ）包括联盟。所有参与者完成了一项学习访问，包括有关临床特征，治疗，考试和电机和非运动问卷的信息。临床特征是分别的男女之间的比较 <FC> IPD </ FC> 和 <FC> LRRK </ FC> 2 </ i> <FC> PD </ FC> ;和特征在比较 <FC> IPD </ FC> 和 <FC> LRRK </ FC> 2 </ i> <FC> PD </ FC> 分开男女。 </ p> </部分> <第XML：ID =“ACN3489-SEC-0003”> <标题类型=“main”>结果</ title> > 之中 <FC> IPD </ FC> </ i> ：男性有更高的左旋多巴等效剂量（ <FC> LED </ FC> ），日常生活和摩尔严重程度越差，但治疗的并发症较低（ <FC> UPDRS </ FC> - <FC> IV </ FC> ）。 <FC> IPD </ FC> 女性嗅觉和热调节性得分更高，更有可能报告家族史 <FC> PD </ FC> 。之中 <FC> LRRK </ FC> 2 <FC> PD </ FC> </ i> ：G2019S之间未观察到男性优势 <FC> LRRK </ FC> 2 </ i> 案件。女人更糟糕 <FC> UPDRS </ FC> - <FC> IV </ FC> 但更好的嗅觉。在同性之间</ i> ： <FC> LRRK </ FC> 2 </ i> 男人和女人比 <FC> IPD </ FC> 同行。 <FC> LRRK </ FC> 2 </ i> 男性展示了较低的电机和更高的认知， <FC> RBD </ FC> 和温度调节得分比 <FC> IPD </ FC> 男人和 <FC> LRRK </ FC> 2 </ i> 女人有更多 <FC> UDPRS </ FC> - <FC> IV </ FC> 和障碍率的率。 </ p> </部分> <第XML：ID =“ACN3489-SEC-0004”> <标题类型=“main”>解释</ title> > 性别与更严重的表型有临床差异 <FC> IPD </ FC> 男性和更多女性治疗的并发症。更严重的男性表型受到调节 <FC> LRRK </ FC> 2 </ i> ，和 <FC> LRRK </ FC> 2 </ i> 男性和妇女显示出较少的表型多样性。我们的研究支持遗传和性感的表型，因此试验 </span> <span class="z_kbtn z_kbtnclass hoverxs" style="display: none;">展开▼</span> </div> </div> <div class="record"> <h2 class="all_title" id="enpatent33" >著录项</h2> <ul> <li> <span class="lefttit">来源</span> <div style="width: 86%;vertical-align: text-top;display: inline-block;"> <a href='/journal-foreign-18063/'>《Advanced materials interfaces》</a> <b style="margin: 0 2px;">|</b><span>2017年第11期</span><b style="margin: 0 2px;">|</b><span>共10页</span> </div> </li> <li> <div class="author"> <span class="lefttit">作者</span> <p id="fAuthorthree" class="threelineshidden zhankaihshouqi"> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=San Luciano Marta&option=202" target="_blank" rel="nofollow">San Luciano Marta;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Wang Cuiling&option=202" target="_blank" rel="nofollow">Wang Cuiling;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Ortega Roberto A.&option=202" target="_blank" rel="nofollow">Ortega Roberto A.;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Giladi Nir&option=202" target="_blank" rel="nofollow">Giladi Nir;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Marder Karen&option=202" target="_blank" rel="nofollow">Marder Karen;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Bressman Susan&option=202" target="_blank" rel="nofollow">Bressman Susan;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=Saunders‐Pullman Rachel&option=202" target="_blank" rel="nofollow">Saunders‐Pullman Rachel;</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=the Michael J Fox Foundation LRRK2 Consortium&option=202" target="_blank" rel="nofollow">the Michael J Fox Foundation LRRK2 Consortium;</a> </p> <span class="z_kbtnclass z_kbtnclassall hoverxs" id="zkzz" style="display: none;">展开▼</span> </div> </li> <li> <div style="display: flex;"> <span class="lefttit">作者单位</span> <div style="position: relative;margin-left: 3px;max-width: 639px;"> <div class="threelineshidden zhankaihshouqi" id="fOrgthree"> <p>Department of NeurologyMount Sinai Beth Israel Medical CenterNew York New York;</p> <p>Department of Epidemiology and Population HealthAlbert Einstein College of MedicineBronx New York;</p> <p>Department of NeurologyMount Sinai Beth Israel Medical CenterNew York New York;</p> <p>Movement Disorders UnitNeurological InstituteTel Aviv Israel;</p> <p>Department of NeurologyColumbia UniversityNew York New York;</p> <p>Department of NeurologyMount Sinai Beth Israel Medical CenterNew York New York;</p> <p>Department of NeurologyMount Sinai Beth Israel Medical CenterNew York New York;</p> </div> <span class="z_kbtnclass z_kbtnclassall hoverxs" id="zhdw" style="display: none;">展开▼</span> </div> </div> </li> <li > <span class="lefttit">收录信息</span> <span style="width: 86%;vertical-align: text-top;display: inline-block;"></span> </li> <li> <span class="lefttit">原文格式</span> <span>PDF</span> </li> <li> <span class="lefttit">正文语种</span> <span>eng</span> </li> <li> <span class="lefttit">中图分类</span> <span><a href="https://www.zhangqiaokeyan.com/clc/6960.html" title="特种结构材料">特种结构材料;</a></span> </li> <li class="antistop"> <span class="lefttit">关键词</span> <p style="width: 86%;vertical-align: text-top;"> </p> </li> <li> <span class="lefttit">入库时间</span> <span>2022-08-20 00:33:27</span> </li> </ul> </div> </div> <div class="literature cardcommon"> <div class="similarity "> <h3 class="all_title" id="enpatent66">相似文献</h3> <div class="similaritytab clearfix"> <ul> <li class="active" >外文文献</li> <li >中文文献</li> <li >专利</li> </ul> </div> <div class="similarity_details"> <ul > <li> <div> <b>1. </b><a class="enjiyixqcontent" href="/journal-foreign-detail/0704022434072.html">Sex differences in LRRK2 G2019S and idiopathic Parkinson's Disease</a> <b>[J]</b> . <span> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=San Luciano Marta&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">San Luciano Marta,</a> <a 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href="/academic-journal-cn_chinese-journal-contemporary-neurology-neurosurgery_thesis/0201279882657.html">存在LRRK2和Parkin基因罕见位点突变的早发性帕金森病一例</a> <b>[J]</b> <span> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=段春霞&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor"> . 段春霞</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=黄卫&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,黄卫</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=王子裕&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,王子裕</a> <span> <a href="/journal-cn-6254/" target="_blank" rel="nofollow" class="tuijian_authcolor"> . 中国现代神经疾病杂志 </a> </span> <span> . 2019</span><span>,第007期</span> </span> </div> </li> <li> <div> <b>5. </b><a class="enjiyixqcontent" href="/academic-journal-cn_medical-recapitulate_thesis/0201252655418.html">帕金森病相关蛋白LRRK2对细胞自噬的调节和机制</a> <b>[J]</b> <span> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=杨璇&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor"> . 杨璇</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=胡月青&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,胡月青</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=刘新秀&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,刘新秀</a> <span> <a href="/journal-cn-6685/" target="_blank" rel="nofollow" class="tuijian_authcolor"> . 医学综述 </a> </span> <span> . 2018</span><span>,第011期</span> </span> </div> </li> <li> <div> <b>6. </b><a class="enjiyixqcontent" href="/academic-conference-cn_meeting-40338_thesis/020222373331.html">LRRK2基因多态性与华中地区汉族散发性帕金森病的相关性研究</a> <b>[C]</b> <span> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=张国新&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor"> . 张国新</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=熊念&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,熊念</a> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=韩超&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor">,韩超</a> <span> <a href="/conference-cn-40338/" target="_blank" rel="nofollow" class="tuijian_authcolor"> . 2015年湖北省神经康复学术会议 </a> <span> <span> . 2015</span> </span> </div> </li> <li> <div> <b>7. </b><a class="enjiyixqcontent" href="/academic-degree-domestic_mphd_thesis/020312707984.html">酵母双杂交筛选帕金森病相关基因LRRK2互作蛋白以及LRRK2和UCH-L1基因启动子区与帕金森病的关联研究</a> <b>[A] </b> <span> <a href="/search.html?doctypes=4_5_6_1-0_4-0_1_2_3_7_9&sertext=杨眉&option=202" target="_blank" rel="nofollow" class="tuijian_auth tuijian_authcolor"> . 杨眉</a> <span> . 2009</span> </span> </div> </li> </ul> <ul style="display: none;"> <li> <div> <b>1. </b><a class="enjiyixqcontent" href="/patent-detail/061203034280.html">作为激酶LRRK2调节剂用于治疗帕金森病的2-苯基氨基嘧啶衍生物</a> <b>[P]</b> . <span> 中国专利： CN105801493B </span> <span> . 2018.09.21</span> </div> </li> <li> <div> <b>2. </b><a class="enjiyixqcontent" href="/patent-detail/06120108772422.html">作为LRRK2调节剂用于治疗帕金森病的吡唑氨基嘧啶衍生物</a> <b>[P]</b> . <span> 中国专利： CN106279202A </span> <span> . 2017-01-04</span> </div> </li> <li> <div> <b>3. </b><a class="enjiyixqcontent" href="/patent-detail/06130428140899.html">Leucine-rich repeat kinase (LRRK2) drosophila model for parkinson's disease: wildtype1 (WT1) and G2019S mutant flies</a> <b>[P]</b> . <span> 外国专利：  US2010175140A1 </span> <span> . 2010-07-08</span> </div> <p class="zwjiyix translation" style="max-width: initial;height: auto;word-break: break-all;white-space: initial;text-overflow: initial;overflow: initial;"> <span>机译：帕金森氏病的富亮氨酸重复激酶（LRRK2）果蝇模型：野生型1（WT1）和G2019S突变体苍蝇 </span> </p> </li> <li> <div> <b>4. </b><a class="enjiyixqcontent" href="/patent-detail/06130400636447.html">LRRK2 PYRAZOLE AMINOPYRIMIDINE DERIVATIVES AS LRRK2 MODULATORS FOR USE IN THE TREATMENT OF PARKINSON'S DISEASE</a> <b>[P]</b> . <span> 外国专利：  KR102091895B1 </span> <span> . 2020-04-14</span> </div> <p class="zwjiyix translation" style="max-width: initial;height: auto;word-break: break-all;white-space: initial;text-overflow: initial;overflow: initial;"> <span>机译：LRRK2吡唑氨基嘧啶衍生物作为LRRK2调节剂，用于治疗帕金森氏病 </span> </p> </li> <li> <div> <b>5. </b><a class="enjiyixqcontent" href="/patent-detail/06130400640279.html">LRRK2 2- 2-PHENYLAMINOPYRIMIDINE DERIVATIVES AS KINASE LRRK2 MODULATORS FOR THE TREATMENT OF PARKINSON'S DISEASE</a> <b>[P]</b> . <span> 外国专利：  KR102088072B1 </span> <span> . 2020-03-11</span> </div> <p class="zwjiyix translation" style="max-width: initial;height: auto;word-break: break-all;white-space: initial;text-overflow: initial;overflow: initial;"> <span>机译：LRRK2 2- 2-苯胺基嘧啶衍生物作为激酶激酶RKRK2调节剂，用于治疗帕金森氏病 </span> </p> </li> </ul> </div> </div> </div> <div class="theme cardcommon" 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